Article
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
Human molecular genetics - 1 Jan 2000
Liu X Z, Xia X J, Xu L R, Pandya A, Liang C Y, Blanton S H, Brown S D, Steel K P, Nance W E
Abstract excerpt
Mutations in the GJB3 gene encoding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2). To determine whether mutations at this locus can also cause recessive non-syndromic deafness, we screened 25 Chinese families with recessive deafness and identified in two families affected individuals who were compound heterozygotes for Cx31 mutations. The three affected individuals in the two...
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